A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607919



Internal ID6994850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3017965..3021817hg38UCSC Ensembl
Innerchr6:3018011..3021771hg38UCSC Ensembl
Outerchr6:3017919..3021863hg38UCSC Ensembl
chr6:3018199..3022051hg19UCSC Ensembl
Innerchr6:3018245..3022005hg19UCSC Ensembl
Outerchr6:3018153..3022097hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg383853
hg193853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12178778, essv12178777
SamplesHG03027, HG02768
Known GenesHTATSF1P2, NQO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607919
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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